title: [Investigation of hyperhomocysteinemia].
abstract: Hyperhomocysteinemia has been described as a risk factor for venous and arterial thromboembolic diseases but may be also involved in neurodegenerative and neuropsychiatric disorders. Considering some arguments for homocysteine (Hcy) toxicity, a systematic investigation tool of hyperhomocysteinemia is needed. Understanding of the complexity of homocysteine metabolism can help to improve etiologic diagnosis of hyperhomocysteinemia, especially in determining the genetic or nutritional origin of the anomaly. We propose here a brief description of different clinical presentations and a strategy for biological investigation of hyperhomocysteinemia.
authors.affiliation: Laboratoire de biochimie et biologie moléculaire, CHRU de Tours, Tours, France, Inserm U930, Equipe neurogénétique et neurométabolomique, Université François Rabelais, Tours, France.
authors.forename: Charlotte
authors.initials: C
authors.lastname: Veyrat-Durebex
authors.forename: Hélène
authors.initials: H
authors.lastname: Blasco
authors.forename: Julie
authors.initials: J
authors.lastname: Crinier
authors.forename: Caroline
authors.initials: C
authors.lastname: Vayne
authors.forename: Patrick
authors.initials: P
authors.lastname: Emond
authors.forename: François
authors.initials: F
authors.lastname: Labarthe
authors.forename: Christian R
authors.initials: CR
authors.lastname: Andres
authors.forename: François
authors.initials: F
authors.lastname: Maillot
mesh_terms: D001774:Blood Chemical Analysis / Q000379:methods; D002845:Chromatography; D019937:Diagnostic Techniques and Procedures; D005821:Genetic Techniques; D006710:Homocysteine / Q000378:metabolism; D006801:Humans; D020138:Hyperhomocysteinemia / Q000175:diagnosis* / Q000209:etiology / Q000378:metabolism; D013455:Sulfur / Q000378:metabolism
chemical_list: D006710:Homocysteine; D013455:Sulfur
keywords: CBS; MTHFR; cobalamin; folates; homocysteine